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Fig. 1 | Genome Medicine

Fig. 1

From: Mutation-Attention (MuAt): deep representation learning of somatic mutations for tumour typing and subtyping

Fig. 1

Illustration of the MuAt deep neural network to predict the type of a tumour from its catalogue of somatic mutations. First, mutation data is one-hot encoded. MuAt integrates three data modalities: 3-bp sequence motif, genomic position and genomic annotations. Then, embedded mutation vectors are fed to the attention mechanism. Finally, mutation-level features are combined into tumour-level features, and tumour type is predicted. MuAt models can be interrogated by analysing (1) the attention matrix to recover informative mutations for tumours and tumour types, (2) tumour-level features for tumour subtype discovery and (3) prediction performance

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